Variant #0000333670 (NC_000023.10:g.35985829C>T, CXorf22(NM_152632.3):c.1694C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.35985829C>T
DNA change (hg38) g.35967712C>T
Published as CXorf22(NM_152632.3):c.1694C>T (p.(Ser565Leu))
ISCN -
DB-ID CXorf22_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00198 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf30 NM_001098843.4 ?/. - c.-261761C>T r.(?) p.(=)
CXorf59 NM_001304548.1 ?/. - c.1694C>T r.(?) p.(Ser565Leu)
CXorf22 NM_152632.3 ?/. - c.1694C>T r.(?) p.(Ser565Leu)